Linked Data
ClinVar Variation Id:
47118
dbSNP Id:
rs200001206
ExAC:
2:179462685 A / G
gnomAD v2:
2-179462685-A-G
gnomAD v3:
2-178597958-A-G
gnomAD v4:
2-178597958-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597958A>G , CM000664.2:g.178597958A>G | GRCh38 |
| NC_000002.11:g.179462685A>G , CM000664.1:g.179462685A>G | GRCh37 |
| NC_000002.10:g.179170930A>G | NCBI36 |
| NG_011618.3:g.237845T>C , LRG_391:g.237845T>C | |
| NG_051363.1:g.80132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49508T>C (TTN) | ENSP00000343764.6:p.Ile16503Thr | |
| ENST00000342175.11:c.30593T>C (TTN) | ENSP00000340554.6:p.Ile10198Thr | |
| ENST00000359218.10:c.30392T>C (TTN) | ENSP00000352154.5:p.Ile10131Thr | |
| ENST00000342175.10:c.30593T>C (TTN) | ENSP00000340554.6:p.Ile10198Thr | |
| ENST00000342992.10:c.49508T>C (TTN) | ENSP00000343764.6:p.Ile16503Thr | |
| ENST00000359218.9:c.30392T>C (TTN) | ENSP00000352154.5:p.Ile10131Thr | |
| ENST00000460472.6:c.30017T>C (TTN) | ENSP00000434586.1:p.Ile10006Thr | |
| ENST00000589042.5:c.57212T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile19071Thr | |
| ENST00000591111.5:c.52289T>C (TTN) | ENSP00000465570.1:p.Ile17430Thr | |
| ENST00000615779.4:c.52289T>C (TTN) | ENSP00000483597.1:p.Ile17430Thr | |
| NM_001256850.1:c.52289T>C (TTN) | NP_001243779.1:p.Ile17430Thr | |
| NM_001267550.2:c.57212T>C (TTN) MANE Select | NP_001254479.2:p.Ile19071Thr | |
| NM_003319.4:c.30017T>C (TTN) | NP_003310.4:p.Ile10006Thr | |
| NM_133378.4:c.49508T>C (TTN) | NP_596869.4:p.Ile16503Thr | |
| NM_133432.3:c.30392T>C (TTN) | NP_597676.3:p.Ile10131Thr | |
| NM_133437.4:c.30593T>C (TTN) | NP_597681.4:p.Ile10198Thr | |
| NR_038271.1:n.682+277A>G (TTN-AS1) | ||
| NR_038272.1:n.3450+277A>G (TTN-AS1) | ||
| XM_011511729.1:c.56309T>C (TTN) | XP_011510031.1:p.Ile18770Thr | |
| XM_011511730.1:c.30203T>C (TTN) | XP_011510032.1:p.Ile10068Thr | |
| XM_011511731.1:c.30062T>C (TTN) | XP_011510033.1:p.Ile10021Thr | |
| XM_017004819.1:c.56105T>C (TTN) | XP_016860308.1:p.Ile18702Thr | |
| XM_017004820.1:c.51503T>C (TTN) | XP_016860309.1:p.Ile17168Thr | |
| XM_017004821.1:c.51500T>C (TTN) | XP_016860310.1:p.Ile17167Thr | |
| XM_017004822.1:c.48542T>C (TTN) | XP_016860311.1:p.Ile16181Thr | |
| XM_017004823.1:c.30158T>C (TTN) | XP_016860312.1:p.Ile10053Thr | |
| XM_024453094.1:c.51653T>C (TTN) | XP_024308862.1:p.Ile17218Thr | |
| XM_024453095.1:c.51650T>C (TTN) | XP_024308863.1:p.Ile17217Thr | |
| XM_024453096.1:c.51083T>C (TTN) | XP_024308864.1:p.Ile17028Thr | |
| XM_024453097.1:c.48425T>C (TTN) | XP_024308865.1:p.Ile16142Thr | |
| XM_024453098.1:c.48344T>C (TTN) | XP_024308866.1:p.Ile16115Thr | |
| XM_024453099.1:c.30107T>C (TTN) | XP_024308867.1:p.Ile10036Thr | |
| XM_024453100.1:c.19961T>C (TTN) | XP_024308868.1:p.Ile6654Thr |